tyrosinemia

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Related to Hypertyrosinemia: tyrosinemia type 2

tyrosinemia

[‚tir·ə′sē·mē·ə]
(medicine)
An inborn metabolic disorder in which there is a deficiency of the enzyme p-hydroxyphenylpyruvic acid oxidase with abnormally high blood levels of tyrosine and sometimes methionine.
References in periodicals archive ?
(1983) Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: A new variant form of hereditary hypertyrosinemia. Pediatr.
(1.) Mitchell GA, Grompe M, Lambert M, Tanguay RM Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.
Tyrosine measurement solely in dried-blood spot (DBS) specimens lacks specificity (9) because various pathologic conditions, including other disorders in tyrosine catabolism (10) and benign transient hypertyrosinemia of the newborn (9, 10), can lead to increased tyrosine.